Thought Leaders in Europe and US Address Challenges to Making Rare Diseases a Global Public Health Priority

CSL Behring announces a special edition of its Key Issues Dialogue series released in conjunction with Rare Disease Day 2011, an international event to raise awareness of rare diseases and their impact on people’s lives. The Dialogue spanned two continents and provided a platform for sharing and exploring important information and ideas for patients, caregivers and healthcare providers.

28 Feb 2011

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CSL Behring announces a special edition of its Key Issues Dialogue series released in conjunction with Rare Disease Day 2011, an international event to raise awareness of rare diseases and their impact on people’s lives. The Dialogue spanned two continents and provided a platform for sharing and exploring important information and ideas for patients, caregivers and healthcare providers.

Creating a more favorable environment
One of the main challenges the participants addressed is how to create a more favorable environment for research and treatment of rare diseases. "The first priority is to make rare diseases a long-term priority both for research and public health in America and Europe," Yann Le Cam said. "Then we can create a more favorable environment and work on the specifics of drug development, creating centers of care, providing information and registries, and also obtaining the funding for the long-term approach."

The participants discussed the need to expand efforts to inform the rare diseases community about clinical studies and the location of experts, particularly in the US. There was general agreement that the European countries have placed more emphasis on identifying centers of excellence than in the US so that patients with rare diseases know where to go for treatment. According to NORD’s Peter Saltonstall, public policy is another major issue. "Rare diseases are not well known," Mr. Saltonstall said. "The people controlling funding and regulation are not as well informed as they need to be."

Concerns around diagnosis
In the area of primary immune deficiency diseases, Dr. Hammarström said that although the span from debut of disease to diagnosis and treatment has been shortened, there is still a considerable time lapse. "We need to press this point," Dr. Hammarström said. "What about neonatal screening? In this challenge the US has taken the lead and Europe is lagging behind. We have been discussing it at the EU Parliament."

Neonatal screening, which has gained acceptance in the US, was viewed by the participants as a global step worth exploring. The US has taken steps to expand newborn screening programs for 29 different diseases and there is discussion of expanding the programs to include additional disorders. One concern is what to do with diagnosed patients. Is there sufficient infrastructure to transfer them into research or treatment centers for the individual rare diseases?

Yann Le Cam, in his capacity as Vice Chair of the EU Committee of Experts on Rare Diseases, explained that a policy project sponsored by the European Commission is developing the future policy of the EU on newborn screening. He added that the project is ongoing and that "an explicit policy should be proposed in 2012 and possibly recommended to all EU member states before 2014."

Harmonization
The importance of harmonization between the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) to reduce the cost of clinical trials, especially for makers of therapies used to treat small rare disease populations, was another key issue analyzed by the participants. Clinical trials for rare disease therapies can cost more than €75 million ($100 million). As a result, Dr. Hammarström said some necessary clinical trials will never be done. "This means that certain types of therapies will be unavailable on both sides of the Atlantic," he said.

In addition, according to Peter Turner, Europe and the US are seldom aligned on clinical trial design. "Quite often we have to design a European trial and then a US trial because of requirements differing across the Atlantic," Mr. Turner explained. Yann Le Cam noted that EURORDIS has been working toward a solution by partnering with the EMA and the FDA on a retrospective analysis of orphan drug designations versus applications to better understand potential common approaches to new therapies. "There were many more commonalities than differences," Mr. Le Cam said. "Ninety-two percent of the decisions were the same."

Availability
There is a further complication in that the availability of treatments for rare diseases differs from country to country. According to Peter Saltonstall, if a therapy has been used on patients for period of time in Europe and the European safety and efficacy standards have been demonstrated, it is important to find a way to apply that information within the U.S. market. "There needs to be a way for patients to get the drugs and therapies more quickly," Mr. Saltonstall said.

Yann Le Cam pointed out that globally, 80-85% of people with rare diseases are treated with off-label drugs and therapies. "We should encourage the collection of data during off-label use, both on safety and efficacy. This would be good medical practice that can lead to better care for patients and also a better allocation of resources," Mr. Le Cam said.

The nature of rare diseases is such that there are multiple organs and multiple systems involved in individual diseases. This makes it all the more important to bring the partners together, not only the academic researchers, but also the industry, the patient advocacy groups and government research and regulatory organizations. The lack of coordination, it was agreed by the participants, will harm any possibility of rapid product development. This can be offset by becoming more proactive, identifying the opportunities and then utilizing the available resources.

About CSL Behring
CSL Behring is a leader in the plasma protein therapeutics industry. Committed to saving lives and improving the quality of life for people with rare and serious diseases, the company manufactures and markets a range of plasma-derived and recombinant therapies worldwide.

CSL Behring therapies are indicated for the treatment of coagulation disorders including hemophilia and von Willebrand disease, primary immune deficiencies, hereditary angioedema and inherited respiratory disease. The company’s products are also used in cardiac surgery, organ transplantation, burn treatment and to prevent hemolytic diseases in newborns.

CSL Behring operates one of the world’s largest plasma collection networks, CSL Plasma. CSL Behring is a subsidiary of CSL Limited (ASX:CSL), a biopharmaceutical company headquartered in Melbourne, Australia. For more information, visit www.cslbehring.com.